The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act... See more...

Aliases for AUP1 Gene

Aliases for AUP1 Gene

  • AUP1 Lipid Droplet Regulating VLDL Assembly Factor 2 3 5
  • Ancient Ubiquitous Protein 1 2 3 4
  • Lipid Droplet-Regulating VLDL Assembly Factor AUP1 3 4
  • AUP1 5

External Ids for AUP1 Gene

Previous GeneCards Identifiers for AUP1 Gene

  • GC02M074891
  • GC02M074966
  • GC02M074711
  • GC02M074728
  • GC02M074665
  • GC02M074607
  • GC02M074753
  • GC02M074490

Summaries for AUP1 Gene

Entrez Gene Summary for AUP1 Gene

  • The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for AUP1 Gene

AUP1 (AUP1 Lipid Droplet Regulating VLDL Assembly Factor) is a Protein Coding gene. Diseases associated with AUP1 include Dengue Virus and Mental Retardation, Autosomal Dominant 38.

UniProtKB/Swiss-Prot Summary for AUP1 Gene

  • Plays a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome (PubMed:18711132, PubMed:21857022). Plays a role in lipid droplet formation (PubMed:21857022). Induces lipid droplet clustering (PubMed:24039768). Recruits ubiquitin-conjugating enzyme UBE2G2 to lipid droplets which facilitates its interaction with ubiquitin ligases AMFR/gp78 and RNF139/TRC8, leading to sterol-induced ubiquitination of HMGCR and its subsequent proteasomal degradation (PubMed:23223569, PubMed:21127063). Also required for the degradation of INSIG1, SREBF1 and SREBF2 (PubMed:23223569). Plays a role in regulating assembly and secretion of very low density lipoprotein particles and stability of apolipoprotein APOB (PubMed:28183703).
  • (Microbial infection) Following Dengue virus infection, required for induction of lipophagy which facilitates production of virus progeny particles.

Gene Wiki entry for AUP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AUP1 Gene

Genomics for AUP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AUP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AUP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AUP1

Top Transcription factor binding sites by QIAGEN in the AUP1 gene promoter:
  • AP-1
  • E47
  • Gfi-1
  • LCR-F1
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for AUP1 Gene

Latest Assembly
chr2:74,526,645-74,529,760
(GRCh38/hg38)
Size:
3,116 bases
Orientation:
Minus strand

Previous Assembly
chr2:74,753,779-74,756,833
(GRCh37/hg19 by Entrez Gene)
Size:
3,055 bases
Orientation:
Minus strand

chr2:74,753,772-74,757,066
(GRCh37/hg19 by Ensembl)
Size:
3,295 bases
Orientation:
Minus strand

Genomic View for AUP1 Gene

Genes around AUP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AUP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AUP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AUP1 Gene

Proteins for AUP1 Gene

  • Protein details for AUP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y679-AUP1_HUMAN
    Recommended name:
    Lipid droplet-regulating VLDL assembly factor AUP1
    Protein Accession:
    Q9Y679
    Secondary Accessions:
    • C0H5W8
    • Q9H866
    • Q9UNQ6
    • Q9Y685

    Protein attributes for AUP1 Gene

    Size:
    410 amino acids
    Molecular mass:
    45787 Da
    Quaternary structure:
    • Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1 (PubMed:18711132). Interacts with the cytoplasmic tail of ITGA2B, ITGA1, ITGA2, ITGA5, ITGAV and ITGAM (PubMed:12042322). Interacts (via C-terminus) with ubiquitin-conjugating enzyme UBE2G2; the interaction recruits UBE2G2 to lipid droplets (PubMed:21127063, PubMed:23223569). Interacts with ubiquitin ligases AMFR/gp78 and RNF139/TRC8; this promotes interaction of UBE2G2 with AMFR and RNF139 (PubMed:23223569). Interacts with apolipoprotein APOB (PubMed:28183703).
    • (Microbial infection) Interacts with Dengue virus NS4A; the interaction occurs in the presence of Dengue virus NS4B and induces lipophagy which facilitates production of virus progeny.
    SequenceCaution:
    • Sequence=AAD43018.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH33646.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AUP1 Gene

    Alternative splice isoforms for AUP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AUP1 Gene

Post-translational modifications for AUP1 Gene

  • Monoubiquitinated and diubiquitinated.
  • (Microbial infection) Not ubiquitinated following Dengue virus infection.
  • Ubiquitination at Lys143, Lys250, Lys264, Lys269, Lys359, and Lys377
  • Modification sites at PhosphoSitePlus

Other Protein References for AUP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AUP1 Gene

Domains & Families for AUP1 Gene

Gene Families for AUP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for AUP1 Gene

InterPro:
Blocks:
  • Ubiquitin system component Cue
  • Phospholipid/glycerol acyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for AUP1 Gene

GenScript: Design optimal peptide antigens:
  • Ancient ubiquitous protein 1 (AUP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y679

UniProtKB/Swiss-Prot:

AUP1_HUMAN :
  • The CUE domain is required for interaction with the ER quality control machinery and misfolded substrates, ubiquitination, lipid clustering and interaction with AMFR but is not required for localization to lipid droplets.
  • Belongs to the AUP1 family.
Domain:
  • The CUE domain is required for interaction with the ER quality control machinery and misfolded substrates, ubiquitination, lipid clustering and interaction with AMFR but is not required for localization to lipid droplets.
Family:
  • Belongs to the AUP1 family.
genes like me logo Genes that share domains with AUP1: view

Function for AUP1 Gene

Molecular function for AUP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome (PubMed:18711132, PubMed:21857022). Plays a role in lipid droplet formation (PubMed:21857022). Induces lipid droplet clustering (PubMed:24039768). Recruits ubiquitin-conjugating enzyme UBE2G2 to lipid droplets which facilitates its interaction with ubiquitin ligases AMFR/gp78 and RNF139/TRC8, leading to sterol-induced ubiquitination of HMGCR and its subsequent proteasomal degradation (PubMed:23223569, PubMed:21127063). Also required for the degradation of INSIG1, SREBF1 and SREBF2 (PubMed:23223569). Plays a role in regulating assembly and secretion of very low density lipoprotein particles and stability of apolipoprotein APOB (PubMed:28183703).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Following Dengue virus infection, required for induction of lipophagy which facilitates production of virus progeny particles.
UniProtKB/Swiss-Prot Induction:
(Microbial infection) By Dengue virus infection (at protein level).
GENATLAS Biochemistry:
ancient ubiquitous protein 1,43kDa,homolog to mouse Aup1 and C elegans hypothetical protein F44b9.5

Phenotypes From GWAS Catalog for AUP1 Gene

Gene Ontology (GO) - Molecular Function for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22119785
GO:0031624 ubiquitin conjugating enzyme binding IPI 21127063
GO:0031625 ubiquitin protein ligase binding IPI 23223569
GO:0043130 ubiquitin binding IBA 21873635
GO:0097027 ubiquitin-protein transferase activator activity IBA 21873635
genes like me logo Genes that share ontologies with AUP1: view
genes like me logo Genes that share phenotypes with AUP1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AUP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AUP1 Gene

Localization for AUP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AUP1 Gene

Endoplasmic reticulum membrane. Peripheral membrane protein. Lipid droplet.
Cytoplasmic vesicle, autophagosome. Note=(Microbial infection) Upon Dengue virus infection, relocates from lipid droplets to autophagosomes. {ECO:0000269 PubMed:29902443}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AUP1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
plasma membrane 3
nucleus 3
mitochondrion 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000839 Hrd1p ubiquitin ligase ERAD-L complex IBA 21873635
GO:0005776 autophagosome IEA,IDA 29902443
GO:0005783 endoplasmic reticulum IEA,IDA 21857022
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005811 lipid droplet IEA,IDA 21127063
genes like me logo Genes that share ontologies with AUP1: view

Pathways & Interactions for AUP1 Gene

PathCards logo

SuperPathways for AUP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009615 response to virus IMP 29902443
GO:0016032 viral process IEA --
GO:0030433 ubiquitin-dependent ERAD pathway IMP 23223569
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0034389 lipid droplet organization IDA 24039768
genes like me logo Genes that share ontologies with AUP1: view

No data available for Pathways by source and SIGNOR curated interactions for AUP1 Gene

Drugs & Compounds for AUP1 Gene

No Compound Related Data Available

Transcripts for AUP1 Gene

mRNA/cDNA for AUP1 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AUP1

Alternative Splicing Database (ASD) splice patterns (SP) for AUP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - - - - -
SP6: - - -
SP7: - -
SP8: - - - - - - - - -
SP9:
SP10: -
SP11: -
SP12:
SP13:

Relevant External Links for AUP1 Gene

GeneLoc Exon Structure for
AUP1

Expression for AUP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AUP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AUP1 Gene

This gene is overexpressed in Breast (39.4) and Bone (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AUP1 Gene



Protein tissue co-expression partners for AUP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AUP1

SOURCE GeneReport for Unigene cluster for AUP1 Gene:

Hs.411480

mRNA Expression by UniProt/SwissProt for AUP1 Gene:

Q9Y679-AUP1_HUMAN
Tissue specificity: Detected in blood platelets and leukocytes (at protein level). Ubiquitous. Highly expressed in placenta, liver, kidney, skeletal muscle, heart and brain.

Evidence on tissue expression from TISSUES for AUP1 Gene

  • Nervous system(4.9)
  • Skin(4.7)
  • Blood(4.5)
  • Eye(4.4)
  • Intestine(2.9)
  • Liver(2.8)
  • Lung(2.8)
  • Muscle(2.6)
  • Kidney(2.3)
  • Spleen(2.1)
  • Lymph node(2.1)
  • Heart(2)
  • Pancreas(2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with AUP1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AUP1 Gene

Orthologs for AUP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AUP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AUP1 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AUP1 30 31
  • 92.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AUP1 30 31
  • 91.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aup1 30
  • 90.41 (n)
Mouse
(Mus musculus)
Mammalia Aup1 30 17 31
  • 89.67 (n)
OneToOne
Chicken
(Gallus gallus)
Aves AUP1 30 31
  • 64.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AUP1 31
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aup1 30
  • 59.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii aup1 30 31
  • 58.44 (n)
OneToOne
wufc37d06 30
Worm
(Caenorhabditis elegans)
Secernentea F44B9.5 30 31
  • 41.64 (n)
OneToOne
Species where no ortholog for AUP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AUP1 Gene

ENSEMBL:
Gene Tree for AUP1 (if available)
TreeFam:
Gene Tree for AUP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AUP1: view image

Paralogs for AUP1 Gene

(1) SIMAP similar genes for AUP1 Gene using alignment to 1 proteins:

  • AUP1_HUMAN
genes like me logo Genes that share paralogs with AUP1: view

No data available for Paralogs for AUP1 Gene

Variants for AUP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AUP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
896013 Uncertain Significance: Parkinson disease 13 74,529,409(-) G/A
NM_181575.5(AUP1):c.141C>T (p.Ile47=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
896014 Likely Benign: Parkinson disease 13 74,529,503(-) G/A
NM_181575.5(AUP1):c.51-4C>T
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
896015 Uncertain Significance: Parkinson disease 13 74,529,646(-) G/A
NM_181575.5(AUP1):c.-17C>T
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
897609 Likely Benign: Parkinson disease 13 74,529,683(-) G/A
NM_181575.5(AUP1):c.-54C>T
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
rs1183739 Benign: Parkinson disease 13 74,529,421(-) G/C
NM_181575.5(AUP1):c.129C>G (p.Leu43=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AUP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AUP1 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for AUP1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AUP1 Gene

Human Gene Mutation Database (HGMD)
AUP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AUP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AUP1 Gene

Disorders for AUP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AUP1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AUP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AUP1

genes like me logo Genes that share disorders with AUP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AUP1 Gene

Publications for AUP1 Gene

  1. Ancient ubiquitous protein 1 binds to the conserved membrane-proximal sequence of the cytoplasmic tail of the integrin alpha subunits that plays a crucial role in the inside-out signaling of alpha IIbbeta 3. (PMID: 12042322) Kato A … Oshimi K (The Journal of biological chemistry 2002) 2 3 4 23
  2. Flaviviruses Exploit the Lipid Droplet Protein AUP1 to Trigger Lipophagy and Drive Virus Production. (PMID: 29902443) Zhang J … Sanyal S (Cell host & microbe 2018) 3 4
  3. AUP1 (Ancient Ubiquitous Protein 1) Is a Key Determinant of Hepatic Very-Low-Density Lipoprotein Assembly and Secretion. (PMID: 28183703) Zhang J … Adeli K (Arteriosclerosis, thrombosis, and vascular biology 2017) 3 4
  4. Ancient ubiquitous protein-1 mediates sterol-induced ubiquitination of 3-hydroxy-3-methylglutaryl CoA reductase in lipid droplet-associated endoplasmic reticulum membranes. (PMID: 23223569) Jo Y … DeBose-Boyd RA (Molecular biology of the cell 2013) 3 4
  5. Monotopic topology is required for lipid droplet targeting of ancient ubiquitous protein 1. (PMID: 23197321) Stevanovic A … Thiele C (Journal of lipid research 2013) 3 4

Products for AUP1 Gene

Sources for AUP1 Gene